|Institutional Source||Beutler Lab|
|Gene Name||receptor (calcitonin) activity modifying protein 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1596 (G1)|
|Chromosomal Location||91179822-91225196 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 91223300 bp|
|Amino Acid Change||Valine to Alanine at position 129 (V129A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000095253 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000097648]|
|Predicted Effect||possibly damaging
AA Change: V129A
PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
AA Change: V129A
|Meta Mutation Damage Score||0.3981|
|Coding Region Coverage||
|Validation Efficiency||97% (70/72)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the RAMP family of single-transmembrane-domain proteins, called receptor (calcitonin) activity modifying proteins (RAMPs). RAMPs are type I transmembrane proteins with an extracellular N terminus and a cytoplasmic C terminus. RAMPs are required to transport calcitonin-receptor-like receptor (CRLR) to the plasma membrane. CRLR, a receptor with seven transmembrane domains, can function as either a calcitonin-gene-related peptide (CGRP) receptor or an adrenomedullin receptor, depending on which members of the RAMP family are expressed. In the presence of this (RAMP1) protein, CRLR functions as a CGRP receptor. The RAMP1 protein is involved in the terminal glycosylation, maturation, and presentation of the CGRP receptor to the cell surface. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit high systolic blood pressure due to a disruption in vasodilatory regulation as well as significantly increased serum levels of proinflammatory cytokines following LPS administration. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ramp1||
(F):5'- TCTGTCCAGACAAAGCTGAGTCCC -3'
(R):5'- GCCACTCTCAAGTCCTGTGCTAAC -3'
(F):5'- TCTTTGTATCCACAGGAGCTATG -3'
(R):5'- AAGTCCTGTGCTAACTAGGC -3'